Disease association ontology term - MONDO:0008822 - arthrogryposis, renal dysfunction, and cholestasis 1
Term summary
- ID
- MONDO:0008822
- Name
- arthrogryposis, renal dysfunction, and cholestasis 1
- Ontology or CV name
- Disease association
- Definition
- Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene that disrupts apical–basolateral polarity and vesicle‑trafficking pathways essential for normal liver, kidney, and skin function. Affected individuals present with congenital joint contractures, renal tubular dysfunction, and neonatal cholestasis with low GGT, accompanied by ichthyosis, severe failure to thrive, central nervous system malformations, and platelet α‑granule defects. The condition is severe and often lethal in infancy, reflecting profound epithelial and secretory dysfunction across multiple organs.
